360 related articles for article (PubMed ID: 17273966)
1. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Jaspers NG; Raams A; Silengo MC; Wijgers N; Niedernhofer LJ; Robinson AR; Giglia-Mari G; Hoogstraten D; Kleijer WJ; Hoeijmakers JH; Vermeulen W
Am J Hum Genet; 2007 Mar; 80(3):457-66. PubMed ID: 17273966
[TBL] [Abstract][Full Text] [Related]
2. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham JM; Anyane-Yeboa K; Raams A; Appeldoorn E; Kleijer WJ; Garritsen VH; Busch D; Edersheim TG; Jaspers NG
Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
[TBL] [Abstract][Full Text] [Related]
3. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
Ahmad A; Enzlin JH; Bhagwat NR; Wijgers N; Raams A; Appledoorn E; Theil AF; J Hoeijmakers JH; Vermeulen W; J Jaspers NG; Schärer OD; Niedernhofer LJ
PLoS Genet; 2010 Mar; 6(3):e1000871. PubMed ID: 20221251
[TBL] [Abstract][Full Text] [Related]
4. The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.
Faridounnia M; Wienk H; Kovačič L; Folkers GE; Jaspers NG; Kaptein R; Hoeijmakers JH; Boelens R
J Biol Chem; 2015 Aug; 290(33):20541-55. PubMed ID: 26085086
[TBL] [Abstract][Full Text] [Related]
5. Cerebro-oculo-facio-skeletal syndrome.
Suzumura H; Arisaka O
Adv Exp Med Biol; 2010; 685():210-4. PubMed ID: 20687508
[TBL] [Abstract][Full Text] [Related]
6. Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D; Orioli D; Botta E
Clin Genet; 2020 Jan; 97(1):12-24. PubMed ID: 30919937
[TBL] [Abstract][Full Text] [Related]
7. Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.
Barnhoorn S; Uittenboogaard LM; Jaarsma D; Vermeij WP; Tresini M; Weymaere M; Menoni H; Brandt RM; de Waard MC; Botter SM; Sarker AH; Jaspers NG; van der Horst GT; Cooper PK; Hoeijmakers JH; van der Pluijm I
PLoS Genet; 2014 Oct; 10(10):e1004686. PubMed ID: 25299392
[TBL] [Abstract][Full Text] [Related]
8. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.
Gregg SQ; Robinson AR; Niedernhofer LJ
DNA Repair (Amst); 2011 Jul; 10(7):781-91. PubMed ID: 21612988
[TBL] [Abstract][Full Text] [Related]
9. The ERCC1 and ERCC4 (XPF) genes and gene products.
Manandhar M; Boulware KS; Wood RD
Gene; 2015 Sep; 569(2):153-61. PubMed ID: 26074087
[TBL] [Abstract][Full Text] [Related]
10. Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence.
Weeda G; Donker I; de Wit J; Morreau H; Janssens R; Vissers CJ; Nigg A; van Steeg H; Bootsma D; Hoeijmakers JH
Curr Biol; 1997 Jun; 7(6):427-39. PubMed ID: 9197240
[TBL] [Abstract][Full Text] [Related]
11. Multiple roles of the ERCC1-XPF endonuclease in DNA repair and resistance to anticancer drugs.
Kirschner K; Melton DW
Anticancer Res; 2010 Sep; 30(9):3223-32. PubMed ID: 20944091
[TBL] [Abstract][Full Text] [Related]
12. ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.
Apelt K; White SM; Kim HS; Yeo JE; Kragten A; Wondergem AP; Rooimans MA; González-Prieto R; Wiegant WW; Lunke S; Flanagan D; Pantaleo S; Quinlan C; Hardikar W; van Attikum H; Vertegaal ACO; Wilson BT; Wolthuis RMF; Schärer OD; Luijsterburg MS
J Exp Med; 2021 Mar; 218(3):. PubMed ID: 33315086
[TBL] [Abstract][Full Text] [Related]
13. XPF-ERCC1 protects liver, kidney and blood homeostasis outside the canonical excision repair pathways.
Mulderrig L; Garaycoechea JI
PLoS Genet; 2020 Apr; 16(4):e1008555. PubMed ID: 32271760
[TBL] [Abstract][Full Text] [Related]
14. Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF.
Tian M; Shinkura R; Shinkura N; Alt FW
Mol Cell Biol; 2004 Feb; 24(3):1200-5. PubMed ID: 14729965
[TBL] [Abstract][Full Text] [Related]
15. ERCC1-XPF endonuclease facilitates DNA double-strand break repair.
Ahmad A; Robinson AR; Duensing A; van Drunen E; Beverloo HB; Weisberg DB; Hasty P; Hoeijmakers JH; Niedernhofer LJ
Mol Cell Biol; 2008 Aug; 28(16):5082-92. PubMed ID: 18541667
[TBL] [Abstract][Full Text] [Related]
16. XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF.
Lehmann J; Seebode C; Smolorz S; Schubert S; Emmert S
Cell Mol Life Sci; 2017 Jun; 74(11):2081-2094. PubMed ID: 28130555
[TBL] [Abstract][Full Text] [Related]
17. Defective transcription initiation causes postnatal growth failure in a mouse model of nucleotide excision repair (NER) progeria.
Kamileri I; Karakasilioti I; Sideri A; Kosteas T; Tatarakis A; Talianidis I; Garinis GA
Proc Natl Acad Sci U S A; 2012 Feb; 109(8):2995-3000. PubMed ID: 22323595
[TBL] [Abstract][Full Text] [Related]
18. Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M; Theil AF; Ribeiro-Silva C; Slyskova J; Thijssen K; Voskamp C; Lans H; Vermeulen W
Nucleic Acids Res; 2018 Oct; 46(18):9563-9577. PubMed ID: 30165384
[TBL] [Abstract][Full Text] [Related]
19. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
de Boer J; van Steeg H; Berg RJ; Garssen J; de Wit J; van Oostrum CT; Beems RB; van der Horst GT; van Kreijl CF; de Gruijl FR; Bootsma D; Hoeijmakers JH; Weeda G
Cancer Res; 1999 Jul; 59(14):3489-94. PubMed ID: 10416615
[TBL] [Abstract][Full Text] [Related]
20. Mapping of interaction domains between human repair proteins ERCC1 and XPF.
de Laat WL; Sijbers AM; Odijk H; Jaspers NG; Hoeijmakers JH
Nucleic Acids Res; 1998 Sep; 26(18):4146-52. PubMed ID: 9722633
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
